Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): Definition of the phenotype

Richard A. King, Jacy Pietsch, James P. Fryer, Sarah Savage, Marcia J. Brott, Isabelle Russell-Eggitt, Carole G Summers, William S Oetting

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142 Scopus citations


Oculocutaneous albinism (OCA) is a common human genetic condition resulting from mutations in at least twelve different genes. OCA1 results from mutations of the tyrosinase gene and presents with the life-long absence of melanin pigment after birth (OCA1 A) or with the development of minimal-to-moderate amounts of cutaneous and ocular pigment (OCAIB). Other types of OCA have variable amounts of cutaneous and ocular pigment. We hypothesized that white hair at birth indicates OCA1 and tested this in a sample of 120 probands with OCA and white hair at birth. We found that 102 (85%) of the probands had OCA1 with one or two identifiable tyrosinase gene mutations, with 169 (83%) of the 204 OCA1 tyrosinase gene alleles having identifiable mutations and 35 (17%) having no identifiable change in the coding, splice junction, or proximal promoter regions of the gene. The inability to identify the mutation was more common with OCA1B (24/35, 69%) than with OCA1A (11/35, 31%) alleles. Seven probands with no tyrosinase gene mutations were found to have OCA2 with one or two P gene mutations, and in eleven, no mutations were detected in either gene. We conclude that (1) the presence of white hair at birth is a useful clinical tool suggesting OCA1 in a child or adult with OCA, although OCA2 may also have this presentation; (2) the molecular analysis of the tyrosinase and P genes are necessary for precise diagnosis; and (3) the presence of alleles without identifiable mutations of the tyrosinase gene, particularly in OCA IB, suggests that more complex mutation mechanisms of this gene are common in OCA.

Original languageEnglish (US)
Pages (from-to)502-513
Number of pages12
JournalHuman Genetics
Issue number6
StatePublished - Nov 2003

Bibliographical note

Funding Information:
Acknowledgements The authors thank the wonderful families who have participated in this research and the many physicians who have referred the families to the International Albinism Center. This research was supported in part by United States Public Health grant AR44649 and by the Bernard and Mary Ellen Black family.


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